Alport's syndrome: Clinical experience with five pediatric patients from two families

Abstract

Objective: To gain information on the progression and manifestations of Alprt’s syndrome, as well as on the experience of treatement in the different patients. Materials and Methods: Five pediatric patients (four boys, one girl) with Alport’s syndrome seen between 1993-1999 were included in this study. The clinical, histological, and genetic features as well as treatment were reviewed by medical records. Kidney biopsies were obtained from two patients. Results: Four patients were familial cases, and one male patient was a sporadic case. In the four boys, the first sign of the disease was hematuria. Proteinuria is variable, ranging from detectable in early stages to a nephritic range in advanced stages. One patient with persistent nephritic range proteinuria went into renal insufficiency at the age of 8 years after being followed-up for 5 years. In the other boys, the symptomatology was limited to permanent hematuria and mild to heavy proteinuria. In the girl, the symptomatology was limited to permanent hematuria with mild proteinuria. The ophthalmologic evaluation failed to show lenticonus or macular flecks in our patients. Hearing impairment was noted in two boys at the age of 5 years. Conclusions: Patients with persistence of heavy proteinuria had a worse prognosis. Careful monitoring of renal function and early intervention for proteinuria are proposed for optimal preservation of kidney function. (Tzu Chi Med J 2000; 12:99-104)